Canonical Allele Identifier: CA350387703

Gene: SATB2

Linked Data

• gnomAD v4: 2-199348900-C-A
• MyVariant Identifiers: chr2:g.200213623C>A (hg19) ; chr2:g.199348900C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.199348900C>A , CM000664.2:g.199348900C>A	GRCh38
NC_000002.11:g.200213623C>A , CM000664.1:g.200213623C>A	GRCh37
NC_000002.10:g.199921868C>A	NCBI36
NG_016976.1:g.127367G>T
NG_016976.2:g.127367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428695.6:c.620G>T	ENSP00000388581.1:p.Arg207Leu
ENST00000700191.1:c.620G>T	ENSP00000514853.1:p.Arg207Leu
ENST00000700193.1:c.974G>T	ENSP00000514854.1:p.Arg325Leu
ENST00000700208.1:c.347-76228G>T	ENSP00000514860.1:n.347-76228G>T
ENST00000700210.1:c.628G>T
ENST00000417098.6:c.974G>T MANE Select	ENSP00000401112.1:p.Arg325Leu
ENST00000260926.9:c.974G>T	ENSP00000260926.5:p.Arg325Leu
ENST00000417098.5:c.974G>T	ENSP00000401112.1:p.Arg325Leu
ENST00000428695.5:c.620G>T	ENSP00000388581.1:p.Arg207Leu
ENST00000443023.5:c.797G>T	ENSP00000388764.1:p.Arg266Leu
ENST00000457245.5:c.974G>T	ENSP00000405420.1:p.Arg325Leu
ENST00000483346.2:n.613G>T
ENST00000614512.4:c.620G>T	ENSP00000483287.1:p.Arg207Leu
NM_001172509.1:c.974G>T	NP_001165980.1:p.Arg325Leu
NM_001172517.1:c.974G>T	NP_001165988.1:p.Arg325Leu
NM_015265.3:c.974G>T	NP_056080.1:p.Arg325Leu
XM_005246396.1:c.800G>T	XP_005246453.1:p.Arg267Leu
XM_006712372.1:c.974G>T	XP_006712435.1:p.Arg325Leu
XM_011510840.1:c.974G>T	XP_011509142.1:p.Arg325Leu
XM_005246396.3:c.800G>T	XP_005246453.1:p.Arg267Leu
XM_011510840.3:c.974G>T	XP_011509142.1:p.Arg325Leu
XM_017003656.1:c.800G>T	XP_016859145.1:p.Arg267Leu
XM_024452767.1:c.551G>T	XP_024308535.1:p.Arg184Leu
XM_024452768.1:c.551G>T	XP_024308536.1:p.Arg184Leu
NM_001172509.2:c.974G>T MANE Select	NP_001165980.1:p.Arg325Leu
NM_015265.4:c.974G>T	NP_056080.1:p.Arg325Leu